Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.
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DOI：
10.1161/circresaha.120.315928
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发表时间：
2020-04-24
影响因子：
20.1
通讯作者：
Natarajan P
中科院分区：
文献类型：
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作者：
Aragam KG;Natarajan P
个人对动脉粥样硬化性心血管疾病（ASCVD）的易感性受到许多临床和生活方式因素的影响，这促使目前认可的用于原发性和继发性ASCVD预防的多方面方法。随着对ASCVD（特别是冠心病）的遗传基础及其对疾病风险的贡献的了解不断增加，人们对了解遗传预测因子的潜在临床应用越来越感兴趣，这可能会进一步完善ASCVD风险的评估和管理。快速的科学技术进步使基因分型工作和CAD遗传风险预测领域的动态研究成为可能。在这篇综述中，我们描述了如何利用CAD的基因组分析来创建多基因风险评分（PRS）。然后，我们讨论了对这些评分的临床效用的评估，收集到的相关机制见解，以及与在医疗保健环境中实施PRS相关的实际考虑。
An individual’s susceptibility to atherosclerotic cardiovascular disease (ASCVD) is influenced by numerous clinical and lifestyle factors, motivating the multifaceted approaches that are currently endorsed for primary and secondary ASCVD prevention. With growing knowledge of the genetic basis of ASCVD – in particular, coronary artery disease (CAD) – and its contribution to disease risk, there is increased interest in understanding the potential clinical utility of a genetic predictor that might further refine the assessment and management of ASCVD risk. Rapid scientific and technological advances have enabled widespread genotyping efforts and dynamic research in the field of CAD genetic risk prediction. In this review, we describe how genomic analyses of CAD have been leveraged to create polygenic risk scores (PRS). We then discuss evaluations of the clinical utility of these scores, pertinent mechanistic insights gleaned, and practical considerations relevant to PRS implementation in the health care setting.